Canonical Allele Identifier: CA514812653

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019802G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623796G>T , CM000684.2:g.42623796G>T	GRCh38
NC_000022.10:g.43019802G>T , CM000684.1:g.43019802G>T	GRCh37
NC_000022.9:g.41349746G>T	NCBI36
NG_012194.1:g.30604C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.858C>A	ENSP00000354468.5:p.Ala286=
ENST00000402438.6:c.657C>A	ENSP00000385679.1:p.Ala219=
ENST00000407332.6:c.744C>A	ENSP00000384457.2:p.Ala248=
ENST00000407623.8:c.657C>A	ENSP00000384834.3:p.Ala219=
ENST00000617178.5:c.263C>A
ENST00000684963.1:n.2466C>A
ENST00000685184.1:n.318C>A
ENST00000686523.1:c.*675C>A	ENSP00000508940.1:n.*675C>A
ENST00000687183.1:n.1002C>A
ENST00000687198.1:c.657C>A	ENSP00000508492.1:p.Ala219=
ENST00000688117.1:c.825C>A	ENSP00000509015.1:p.Ala275=
ENST00000688244.1:c.426C>A	ENSP00000510355.1:p.Ala142=
ENST00000689001.1:n.1348C>A
ENST00000689195.1:c.642C>A	ENSP00000509895.1:p.Ala214=
ENST00000689239.1:n.893C>A
ENST00000689795.1:n.987C>A
ENST00000690835.1:c.*105C>A	ENSP00000509038.1:n.*105C>A
ENST00000690993.1:n.1481C>A
ENST00000691295.1:c.*209C>A	ENSP00000508706.1:n.*209C>A
ENST00000691918.1:c.1016C>A	ENSP00000509525.1:n.1016C>A
ENST00000692152.1:c.657C>A	ENSP00000509317.1:p.Ala219=
ENST00000692344.1:n.1213C>A
ENST00000693363.1:c.768C>A	ENSP00000510411.1:p.Ala256=
ENST00000693367.1:c.726C>A	ENSP00000508815.1:p.Ala242=
ENST00000693639.1:c.719C>A	ENSP00000510223.1:n.719C>A
ENST00000693646.1:c.632C>A	ENSP00000508449.1:n.632C>A
ENST00000352397.10:c.726C>A MANE Select	ENSP00000338461.6:p.Ala242=
ENST00000352397.9:c.726C>A	ENSP00000338461.6:p.Ala242=
ENST00000361740.8:c.825C>A	ENSP00000354468.4:p.Ala275=
ENST00000402438.5:c.657C>A	ENSP00000385679.1:p.Ala219=
ENST00000407332.5:c.657C>A	ENSP00000384457.1:p.Ala219=
ENST00000407623.7:c.657C>A	ENSP00000384834.3:p.Ala219=
ENST00000470741.1:n.2860C>A
NM_000398.6:c.726C>A	NP_000389.1:p.Ala242=
NM_001129819.2:c.657C>A	NP_001123291.1:p.Ala219=
NM_001171660.1:c.825C>A	NP_001165131.1:p.Ala275=
NM_001171661.1:c.657C>A	NP_001165132.1:p.Ala219=
NM_007326.4:c.657C>A	NP_015565.1:p.Ala219=
NM_000398.7:c.726C>A MANE Select	NP_000389.1:p.Ala242=
NM_001171660.2:c.825C>A	NP_001165131.1:p.Ala275=